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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2001-11-0093.
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Blood, 1 August 2002, Vol. 100, No. 3, pp. 991-997
NEOPLASIA
HOX11L2 expression defines a clinical subtype of
pediatric T-ALL associated with poor prognosis
Paola Ballerini,
Annick Blaise,
Maryvonne Busson-Le
Coniat,
Xin Ying Su,
Jessica Zucman-Rossi,
Mircea Adam,
Jacqueline van den
Akker,
Christine Perot,
Beatrice Pellegrino,
Judith Landman-Parker,
Luc Douay,
Roland Berger, and
Olivier A. Bernard
From the Service d'Hématologie Biologique,
Hôpital Armand Trousseau, Paris; U434 INSERM-CEPH and SD401 No.
434 CNRS, Paris; UPRES A1638 Université Paris VI; Service de
Cytogénétique, Hôpital Saint Antoine, Paris; and
EMI0210, Faculté Necker-Enfant Malades, Paris, France.
The most frequent oncogenic activation events characterized in
childhood T acute lymphoblastic leukemia (T-ALL) result in the
transcriptional activation of genes coding for transcription factors.
The main genes are TAL1/SCL, a member of the basic
region helix-loop-helix gene family, and HOX11L2, a member
of the homeobox-containing protein family. To gain insight into the
pathogenesis of this type of hematologic malignancy, we analyzed 28 T-ALL samples. SIL-TAL1/SCL fusion was detected in 6 patients; expression of HOX11L2 was observed in 6 patients
and of HOX11 in 3 patients. With one exception, these
activations did not occur simultaneously in the same patients, and they
allowed the subclassification of 50% of the patients.
SIL-TAL1 fusion was detected in association with
HOX11 expression in one patient and with a
t(8;14) (q24;q11) in another. High expression of LYL1,
LMO2, or TAL1 was observed mainly in samples
negative for HOX11L2 expression. HOX11L1 and HOX11 expression were observed in one instance each, in the
absence of detectable chromosomal abnormality of their respective loci, on chromosomes 2 and 10, respectively. HOX11L2 expression
was associated with a chromosome 5q abnormality, the location of the HOX11L2 locus in each case tested. Finally, our data
show that HOX11L2 expression was a suitable marker for
minimal residual disease follow-up and was significantly associated
with relapse (P = .02).

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